BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
Disease: Hereditary Breast and Ovarian Cancer Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357701
rs80357701
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations. 27425403 2016
dbSNP: rs80357701
rs80357701
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry. 27741520 2016
dbSNP: rs80357701
rs80357701
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry. 24916970 2015
dbSNP: rs80357701
rs80357701
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from medellín, Colombia. 24742220 2014
dbSNP: rs80357701
rs80357701
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain). 23683081 2013
dbSNP: rs80357701
rs80357701
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR Hereditary breast cancer in Middle Eastern and North African (MENA) populations: identification of novel, recurrent and founder BRCA1 mutations in the Tunisian population. 21603858 2012
dbSNP: rs80357701
rs80357701
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutations among ovarian cancer patients from Colombia. 22044689 2012
dbSNP: rs80357701
rs80357701
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes. 21702907 2011
dbSNP: rs80357701
rs80357701
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. 21324516 2011
dbSNP: rs80357701
rs80357701
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. 20104584 2010
dbSNP: rs80357701
rs80357701
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR BRCA1 mutations contribute to cell motility and invasion by affecting its main regulators. 19098453 2008
dbSNP: rs80357701
rs80357701
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from Colombia. 17080309 2007
dbSNP: rs80357701
rs80357701
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutations in a South American population. 16616110 2006
dbSNP: rs80357701
rs80357701
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. 16267036 2005
dbSNP: rs80357701
rs80357701
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR Frequency of germ-line BRCA1 mutations among Spanish families from a Mediterranean area. 10737987 2000
dbSNP: rs80357701
rs80357701
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR BRCA1 mutations in African Americans. 10480351 1999
dbSNP: rs80357701
rs80357701
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations. 8776600 1996
dbSNP: rs80357701
rs80357701
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR Mutation analysis of the BRCA1 gene in 23 families with cases of cancer of the breast, ovary, and multiple other sites. 8933332 1996